Incidental Mutation 'IGL03276:Tnfrsf11a'
ID 415416
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tnfrsf11a
Ensembl Gene ENSMUSG00000026321
Gene Name tumor necrosis factor receptor superfamily, member 11a, NFKB activator
Synonyms TRANCE-R, Rank
Accession Numbers
Essential gene? Probably non essential (E-score: 0.181) question?
Stock # IGL03276
Quality Score
Status
Chromosome 1
Chromosomal Location 105708443-105775709 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 105749215 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 211 (Y211C)
Ref Sequence ENSEMBL: ENSMUSP00000027559 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027559]
AlphaFold O35305
PDB Structure Crystal structure of mouse RANKL-RANK complex [X-RAY DIFFRACTION]
Crystal structure of mouse RANK [X-RAY DIFFRACTION]
Crystal structure of extracellular domains of mouse RANK-RANKL complex [X-RAY DIFFRACTION]
Crystal Structure of mouse RANK bound to RANKL [X-RAY DIFFRACTION]
Predicted Effect probably damaging
Transcript: ENSMUST00000027559
AA Change: Y211C

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000027559
Gene: ENSMUSG00000026321
AA Change: Y211C

DomainStartEndE-ValueType
signal peptide 1 30 N/A INTRINSIC
TNFR 35 69 1.48e-7 SMART
TNFR 72 113 2.59e-3 SMART
TNFR 115 152 4.28e-4 SMART
TNFR 155 195 5.27e-4 SMART
transmembrane domain 212 234 N/A INTRINSIC
low complexity region 300 313 N/A INTRINSIC
low complexity region 495 511 N/A INTRINSIC
low complexity region 543 558 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000187658
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the TNF-receptor superfamily. This receptors can interact with various TRAF family proteins, through which this receptor induces the activation of NF-kappa B and MAPK8/JNK. This receptor and its ligand are important regulators of the interaction between T cells and dendritic cells. This receptor is also an essential mediator for osteoclast and lymph node development. Mutations at this locus have been associated with familial expansile osteolysis, autosomal recessive osteopetrosis, and Paget disease of bone. Alternatively spliced transcript variants have been described for this locus. [provided by RefSeq, Aug 2012]
PHENOTYPE: Mice homozygous for a knock-out or spontaneous allele exhibit a failure of tooth eruption, osteopetrosis, and abnormal immune system morphology. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 25 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arhgef25 A C 10: 127,021,794 (GRCm39) F202V possibly damaging Het
Atrnl1 A T 19: 57,641,359 (GRCm39) N336Y probably damaging Het
Bicc1 T C 10: 70,789,268 (GRCm39) D381G possibly damaging Het
Cabin1 A T 10: 75,568,247 (GRCm39) L912Q probably damaging Het
Fam83e A G 7: 45,372,884 (GRCm39) D165G possibly damaging Het
Foxn1 T A 11: 78,261,950 (GRCm39) T140S probably benign Het
Ggt1 A G 10: 75,416,331 (GRCm39) probably benign Het
Kctd8 A T 5: 69,497,929 (GRCm39) M239K possibly damaging Het
Kdm4d A T 9: 14,375,838 (GRCm39) C7S probably benign Het
Kdm5a T A 6: 120,379,669 (GRCm39) probably benign Het
Klrb1b T C 6: 128,792,168 (GRCm39) N191S probably benign Het
Krt35 C T 11: 99,983,953 (GRCm39) S349N probably benign Het
Krt75 A T 15: 101,476,811 (GRCm39) D359E probably damaging Het
Lipo5 T C 19: 33,445,242 (GRCm39) D109G unknown Het
Lsm12 T G 11: 102,073,770 (GRCm39) I58L probably benign Het
Mxd4 T C 5: 34,335,088 (GRCm39) D99G probably benign Het
Nlrp4a T A 7: 26,163,615 (GRCm39) N927K probably damaging Het
Olfm2 A G 9: 20,580,083 (GRCm39) probably benign Het
Pkhd1l1 T C 15: 44,457,980 (GRCm39) V4103A possibly damaging Het
Slc30a9 T C 5: 67,507,260 (GRCm39) probably benign Het
Snap91 T C 9: 86,707,065 (GRCm39) T242A possibly damaging Het
Srp19 A C 18: 34,464,843 (GRCm39) T28P probably damaging Het
Tenm2 C T 11: 35,963,603 (GRCm39) V943I possibly damaging Het
Tgfb3 T C 12: 86,104,642 (GRCm39) E384G probably damaging Het
Tmem39a T A 16: 38,405,646 (GRCm39) N74K probably benign Het
Other mutations in Tnfrsf11a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01137:Tnfrsf11a APN 1 105,737,147 (GRCm39) missense possibly damaging 0.80
IGL02429:Tnfrsf11a APN 1 105,755,443 (GRCm39) missense probably benign 0.14
IGL03222:Tnfrsf11a APN 1 105,749,215 (GRCm39) missense probably damaging 1.00
PIT4354001:Tnfrsf11a UTSW 1 105,749,242 (GRCm39) missense probably damaging 1.00
R0321:Tnfrsf11a UTSW 1 105,772,583 (GRCm39) nonsense probably null
R0514:Tnfrsf11a UTSW 1 105,754,717 (GRCm39) missense probably damaging 1.00
R0655:Tnfrsf11a UTSW 1 105,735,880 (GRCm39) missense unknown
R1470:Tnfrsf11a UTSW 1 105,752,773 (GRCm39) missense probably damaging 0.96
R1470:Tnfrsf11a UTSW 1 105,752,773 (GRCm39) missense probably damaging 0.96
R1868:Tnfrsf11a UTSW 1 105,772,431 (GRCm39) missense probably damaging 1.00
R2900:Tnfrsf11a UTSW 1 105,754,786 (GRCm39) missense probably benign 0.03
R3418:Tnfrsf11a UTSW 1 105,737,130 (GRCm39) missense possibly damaging 0.84
R3816:Tnfrsf11a UTSW 1 105,737,085 (GRCm39) missense probably damaging 0.96
R3817:Tnfrsf11a UTSW 1 105,737,085 (GRCm39) missense probably damaging 0.96
R3818:Tnfrsf11a UTSW 1 105,737,085 (GRCm39) missense probably damaging 0.96
R3819:Tnfrsf11a UTSW 1 105,737,085 (GRCm39) missense probably damaging 0.96
R3879:Tnfrsf11a UTSW 1 105,737,085 (GRCm39) missense probably damaging 0.96
R4037:Tnfrsf11a UTSW 1 105,755,464 (GRCm39) splice site probably null
R4039:Tnfrsf11a UTSW 1 105,755,464 (GRCm39) splice site probably null
R4238:Tnfrsf11a UTSW 1 105,754,962 (GRCm39) missense probably damaging 1.00
R5708:Tnfrsf11a UTSW 1 105,741,545 (GRCm39) splice site probably null
R6102:Tnfrsf11a UTSW 1 105,747,671 (GRCm39) missense possibly damaging 0.62
R6910:Tnfrsf11a UTSW 1 105,772,272 (GRCm39) missense probably damaging 1.00
R7169:Tnfrsf11a UTSW 1 105,772,421 (GRCm39) missense possibly damaging 0.95
R7178:Tnfrsf11a UTSW 1 105,755,264 (GRCm39) missense probably benign 0.04
R7293:Tnfrsf11a UTSW 1 105,735,866 (GRCm39) critical splice acceptor site probably null
R7323:Tnfrsf11a UTSW 1 105,772,456 (GRCm39) missense probably damaging 1.00
R7334:Tnfrsf11a UTSW 1 105,754,854 (GRCm39) missense possibly damaging 0.92
R7607:Tnfrsf11a UTSW 1 105,772,458 (GRCm39) missense probably benign 0.02
R7614:Tnfrsf11a UTSW 1 105,755,094 (GRCm39) missense probably damaging 1.00
R7651:Tnfrsf11a UTSW 1 105,737,171 (GRCm39) missense probably damaging 1.00
R7908:Tnfrsf11a UTSW 1 105,737,099 (GRCm39) missense probably damaging 1.00
R8078:Tnfrsf11a UTSW 1 105,745,409 (GRCm39) missense probably damaging 1.00
R8364:Tnfrsf11a UTSW 1 105,745,412 (GRCm39) missense probably damaging 0.99
R8859:Tnfrsf11a UTSW 1 105,772,244 (GRCm39) critical splice acceptor site probably null
R8979:Tnfrsf11a UTSW 1 105,754,825 (GRCm39) missense possibly damaging 0.78
R9008:Tnfrsf11a UTSW 1 105,754,854 (GRCm39) missense possibly damaging 0.92
R9016:Tnfrsf11a UTSW 1 105,754,854 (GRCm39) missense possibly damaging 0.92
R9017:Tnfrsf11a UTSW 1 105,754,854 (GRCm39) missense possibly damaging 0.92
R9052:Tnfrsf11a UTSW 1 105,754,854 (GRCm39) missense possibly damaging 0.92
Z1177:Tnfrsf11a UTSW 1 105,754,724 (GRCm39) frame shift probably null
Posted On 2016-08-02